microcephaly

  • A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features
    Isaac Marin-Valencia, Gaia Novarino, Anide Johansen, Basak Rosti, Mahmoud Y Issa, Damir Musaev, Gifty Bhat, Eric Scott, Jennifer L Silhavy, Valentina Stanley, Rasim O Rosti, Jeremy W Gleeson, Farhad B Imam, Maha S Zaki, Joseph G Gleeson
  • Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
    Rasim Ozgur Rosti, Bethany N Sotak, Stephanie L Bielas, Gifty Bhat, Jennifer L Silhavy, Ayca Dilruba Aslanger, Umut Altunoglu, Ilmay Bilge, Mehmet Tasdemir, Amanda D Yzaguirrem, Damir Musaev, Sofia Infante, Whitney Thuong, Isaac Marin-Valencia, Stanley F Nelson, Hulya Kayserili, Joseph G Gleeson
  • Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
    Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, Sarju G Mehta, Michael J Parker, David Goudie, Christine Fagotto-Kaufmann, Catherine Mercer, the DDD Study, Anne Debant, Sarah Ennis, Diana Baralle
  • The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes
    Aoife M Waters, Rowan Asfahani, Paula Carroll, Louise Bicknell, Francesco Lescai, Alison Bright, Estelle Chanudet, Anthony Brooks, Sonja Christou-Savina, Guled Osman, Patrick Walsh, Chiara Bacchelli, Ariane Chapgier, Bertrand Vernay, David M Bader, Charu Deshpande, Mary O’ Sullivan, Louise Ocaka, Horia Stanescu, Helen S Stewart, Friedhelm Hildebrandt, Edgar Otto, Colin A Johnson, Katarzyna Szymanska, Nicholas Katsanis, Erica Davis, Robert Kleta, Mike Hubank, Stephen Doxsey, Andrew Jackson, Elia Stupka, Mark Winey, Philip L Beales
  • EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia
    Christopher T Gordon, Florence Petit, Myriam Oufadem, Charles Decaestecker, Anne-Sophie Jourdain, Joris Andrieux, Valérie Malan, Jean-Luc Alessandri, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Bruno Delobel, Klaus Dieterich, Dominique Gaillard, Marie Gonzales, Didier Lacombe, Fabienne Escande, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Sarju G. Mehta, Ingrid Simonic, Arnold Munnich, Michel Vekemans, Nicole Porchet, Loïc de Pontual, Sabine Sarnacki, Tania Attie-Bitach, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel